Premium
Elevated Hb F Associated with β‐Thalassaemia Trait: Haemoglobin Synthesis in Reticulocytes and in Blood BFU‐E
Author(s) -
Dubart A.,
Testa U.,
Musumeci S.,
Vainchenker W.,
Beuzard Y.,
Henri A.,
Schirilo G.,
Romeo M. A.,
Russo G.,
Rochant H.,
Rosa J.
Publication year - 1981
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1981.tb01412.x
Subject(s) - proband , heterozygote advantage , globin , biology , fetal hemoglobin , population , genetics , microbiology and biotechnology , fetus , gene , red cell , medicine , allele , pregnancy , mutation , environmental health
The red cells of a patient heterozygous for β‐thalassaemia contained 19% fetal Hb. Study of his family suggested that the proband had inherited the Swiss type of hereditary persistence of fetal Hb (HPFH) from his mother who is not thalassaemic and possessed 1.37% of Hb and 11% F‐cells. Studies of globin synthesis showed a similar imbalance in the heterocellular HPFH‐β‐thalassaemia compound heterozygotes and in the heterozygous β‐thalassaemic members of the family. Age stratification of the red cells showed a slight enrichment in Hb F and a decreased Hb A 2 level in the older cell populations. Hb F production in the BFU‐E colonies of the proband was higher than that found in vivo and in other β‐thalassaemic heterozygotes in culture. Study of single erythroid burst colonies showed a marked heterogeneity in Hb F synthesis from one colony to another, while the pool of free α‐chains remained of similar magnitude. It is suggested that in the proband, the HPFH gene, which is in trans with respect to the β‐thal‐gene, increases the size of the F‐cell population and its activity is carried on at the expense of the normal β A gene.